Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

A 24-year-old Japanese man exhibited slowly progressive gait disturbance from childhood to young adulthood. Physical and physiological examinations showed the involvement of both upper and lower motor neurons, fulfilling the diagnostic criteria for amyotrophic lateral sclerosis (ALS). Mild cognitive...

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Bibliografiske detaljer
Udgivet i:Intern Med
Main Authors: Yamaura, Genpei, Higashiyama, Yuichi, Kusama, Kaori, Kunii, Misako, Tanaka, Kenichi, Koyano, Shigeru, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Iwahashi, Yukiko, Joki, Hideto, Matsumoto, Naomichi, Doi, Hiroshi, Tanaka, Fumiaki
Format: Artigo
Sprog:Inglês
Udgivet: The Japanese Society of Internal Medicine 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://ncbi.nlm.nih.gov/pubmed/31178479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2126-18
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